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The -Synuclein Gene and Parkinson Disease in a Chinese Population

Daniel K. Y. Chan, MBBS, FRACP; George Mellick, PhD; Hua Cai, MBBS; Xing L. Wang, MBBS, PhD; Ping W. Ng, MBBS, MRCP; Calvin P. Pang, PhD; Jean Woo, MD, FRCP; Richard Kay, MD, FRCP

Arch Neurol. 2000;57:501-503.

Objective  To study the Ala53Thr and Ala30Pro mutations of the -synuclein gene in a large number of Chinese patients with Parkinson disease (PD) as well as controls.

Methods  We recruited 183 Chinese patients with sporadic PD, 17 with younger-onset PD (onset age <50 years), and 7 with PD and a positive family history as well as 227 unaffected Chinese control subjects from the outpatient departments of 2 major hospitals in Hong Kong. All subjects were assessed for the the diagnosis of PD by a consultant neurologist or geriatrician. Subjects were interviewed with a standard questionnaire that also questioned for family history. Venous blood samples were obtained from the subjects and genomic DNA was extracted and studied for the presence of Ala53Thr mutation in exon 4 and Ala30Pro mutation in exon 3 of the -synuclein gene using a polymerase chain reaction restriction fragment length polymorphism method.

Results  None of the Chinese PD patients or controls had either the Ala53Thr (exon 4) or Ala30Pro (exon 3) mutation of the -synuclein gene.

Conclusion  We failed to discover Ala53Thr or Ala30Pro mutations in a large number of Chinese patients with PD and control subjects, adding to the emerging consensus that variations in the -synuclein gene are associated with PD in few families worldwide.

From the Departments of Geriatric Medicine (Dr Chan) and Cardiovascular Medicine (Dr Wang), Prince of Wales Hospital, Sydney, Australia; Departments of Medicine and Neurology, Princess Alexandra Hospital, University of Queensland, Brisbane, Australia (Dr Mellick); Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong (Dr Ng); and Departments of Clinical Pathology (Dr Pang) and Medicine (Drs Woo and Kay), Chinese University of Hong Kong, Hong Kong. Dr Cai is a PhD student at the Prince of Wales Hospital.

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